MYL4 (myosin light chain 4)

2014-11-01  

Identity

HGNC
LOCATION
17q21.32
LOCUSID
ALIAS
ALC1,AMLC,GT1,PRO1957
FUSION GENES

Other Information

Locus ID:

NCBI: 4635
MIM: 160770
HGNC: 7585
Ensembl: ENSG00000198336

Variants:

dbSNP: 4635
ClinVar: 4635
TCGA: ENSG00000198336
COSMIC: MYL4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198336ENST00000354968P12829
ENSG00000198336ENST00000393450P12829
ENSG00000198336ENST00000536623A0A1C7CYY4
ENSG00000198336ENST00000570671I3L4B1
ENSG00000198336ENST00000570772I3L1R3
ENSG00000198336ENST00000571981I3L1R3
ENSG00000198336ENST00000572303I3L532
ENSG00000198336ENST00000572316P12829
ENSG00000198336ENST00000573747I3L3U1
ENSG00000198336ENST00000576874I3L1K6

Expression (GTEx)

0
500
1000
1500
2000
2500
3000

Pathways

PathwaySourceExternal ID
Cardiac muscle contractionKEGGhsa04260
Cardiac muscle contractionKEGGko04260
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
Muscle contractionREACTOMER-HSA-397014
Striated Muscle ContractionREACTOMER-HSA-390522
Apelin signaling pathwayKEGGhsa04371

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
258072862015Large-scale whole-genome sequencing of the Icelandic population.201
97389051998The N-terminus of A1-type myosin essential light chains binds actin and modulates myosin motor function.25
270668362016A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation.23
277428092017A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation.13
103734291999Size and charge requirements for kinetic modulation and actin binding by alkali 1-type myosin essential light chains.11
90005081997The rôle of the proline-rich region in A1-type myosin essential light chains: implications for information transmission in the actomyosin complex.5
161069822005Human atrial myosin light chain 1 expression attenuates heart failure.5
317350762020Metastable Atrial State Underlies the Primary Genetic Substrate for MYL4 Mutation-Associated Atrial Fibrillation.1

Citation

Dessen P

MYL4 (myosin light chain 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70614/myl4